TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.
TMEM16
anoctamin
gnathodiaphyseal dysplasia
phosphatidylserine
phospholipid scramblase
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
15
07
2019
revised:
21
02
2020
accepted:
25
02
2020
pubmed:
1
3
2020
medline:
6
11
2021
entrez:
1
3
2020
Statut:
ppublish
Résumé
Mutations in the human TMEM16E/ANO5 gene are causative for gnathodiaphyseal dysplasia (GDD), a rare bone malformation and fragility disorder, and for two types of muscular dystrophy (MD). Previous studies have demonstrated that TMEM16E/ANO5 is a Ca
Substances chimiques
ANO5 protein, human
0
Anoctamins
0
Phospholipids
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1157-1170Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
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